Canonical Allele Identifier: CA8251326

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89749855G>A , CM000678.2:g.89749855G>A	GRCh38
NC_000016.9:g.89816263G>A , CM000678.1:g.89816263G>A	GRCh37
NC_000016.8:g.88343764G>A	NCBI36
NG_011706.1:g.71803C>T , LRG_495:g.71803C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*1592C>T	ENSP00000512522.1:n.*1592C>T
ENST00000564475.6:c.3114C>T	ENSP00000454977.2:p.Leu1038=
ENST00000567510.2:c.1684C>T	ENSP00000455969.1:n.1684C>T
ENST00000568369.6:c.3114C>T	ENSP00000456829.1:p.Leu1038=
ENST00000568983.6:n.133C>T
ENST00000696274.1:n.3075C>T
ENST00000696275.1:c.*2349C>T	ENSP00000512517.1:n.*2349C>T
ENST00000696286.1:c.3114C>T	ENSP00000512523.1:p.Leu1038=
ENST00000696287.1:c.2985C>T	ENSP00000512524.1:p.Leu995=
ENST00000696291.1:c.*2546C>T	ENSP00000512530.1:n.*2546C>T
ENST00000389301.8:c.3114C>T MANE Select	ENSP00000373952.3:p.Leu1038=
ENST00000305699.15:n.357C>T
ENST00000389301.7:c.3114C>T	ENSP00000373952.3:p.Leu1038=
ENST00000561660.1:c.444-1088C>T
ENST00000563510.5:c.504C>T
ENST00000567988.5:c.366C>T
ENST00000568369.5:c.3114C>T	ENSP00000456829.1:p.Leu1038=
NM_000135.2:c.3114C>T , LRG_495t1:c.3114C>T	NP_000126.2:p.Leu1038=
NM_001286167.1:c.3114C>T	NP_001273096.1:p.Leu1038=
XM_005256294.3:c.3114C>T	XP_005256351.1:p.Leu1038=
XM_011522945.1:c.2985C>T	XP_011521247.1:p.Leu995=
XM_011522946.1:c.2091C>T	XP_011521248.1:p.Leu697=
XM_011522947.1:c.2091C>T	XP_011521249.1:p.Leu697=
XR_933244.1:n.3157C>T
XR_933245.1:n.3157C>T
XR_933246.1:n.3110-1088C>T
NM_000135.3:c.3114C>T	NP_000126.2:p.Leu1038=
NM_001286167.2:c.3114C>T	NP_001273096.1:p.Leu1038=
XM_005256294.4:c.3114C>T	XP_005256351.1:p.Leu1038=
XM_011522945.2:c.2985C>T	XP_011521247.1:p.Leu995=
XM_011522946.3:c.2091C>T	XP_011521248.1:p.Leu697=
XM_011522947.2:c.2091C>T	XP_011521249.1:p.Leu697=
XM_017023044.2:c.2985C>T	XP_016878533.1:p.Leu995=
XM_024450189.1:c.2091C>T	XP_024305957.1:p.Leu697=
XR_001751866.1:n.3110-1088C>T
XR_933244.2:n.3157C>T
XR_933245.2:n.3157C>T
NM_000135.4:c.3114C>T MANE Select	NP_000126.2:p.Leu1038=
NM_001286167.3:c.3114C>T	NP_001273096.1:p.Leu1038=